Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Item
http://www.wikidata.org/entity/Q50310442
Inborn errors of creatine metabolism and epilepsy.A guide to the metabolic pathways and function of metabolites observed in human brain 1H magnetic resonance spectra.A novel mouse model of creatine transporter deficiency.Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsX-linked creatine transporter deficiency: clinical aspects and pathophysiology.Beyond muscles: The untapped potential of creatine.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Creatine synthesis and exchanges between brain cells: What can be learned from human creatine deficiencies and various experimental models?Creatine transporter deficiency: Novel mutations and functional studies.Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.Dodecyl creatine ester and lipid nanocapsule: a double strategy for the treatment of creatine transporter deficiency.Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.Stability of creatine derivatives during simulated digestion in an in vitro model.
P2860

Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.

Item
http://www.wikidata.org/entity/Q50310442
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh-hant
name
Treatment by oral creatine, L- ...... h creatine transporter defect.
@en
Treatment by oral creatine, L- ...... h creatine transporter defect.
@nl
type
label
Treatment by oral creatine, L- ...... h creatine transporter defect.
@en
Treatment by oral creatine, L- ...... h creatine transporter defect.
@nl
prefLabel
Treatment by oral creatine, L- ...... h creatine transporter defect.
@en
Treatment by oral creatine, L- ...... h creatine transporter defect.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
Treatment by oral creatine, L- ...... h creatine transporter defect.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P921